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get_mitochondrial_variant_info

Retrieve mitochondrial variant information from gnomAD v4 database for genetic analysis and research purposes.

Instructions

[gnomAD API] Retrieve mitochondrial variant info (v4 only) Args: reference_genome (str): Reference genome (GRCh37 or GRCh38) variant_id (str): Mitochondrial variant ID (e.g. M-8602-T-C). Build must be GRCh38. Returns: dict: mito variant info Note: Not supported in v2/v3.

Input Schema

TableJSON Schema
NameRequiredDescriptionDefault
reference_genomeYes
variant_idYes
datasetNognomad_r4

Output Schema

TableJSON Schema
NameRequiredDescriptionDefault

No arguments

Implementation Reference

  • Handler function for 'get_mitochondrial_variant_info' tool, registered via FastMCP.
    @mcp.tool()
    def get_mitochondrial_variant_info(
        reference_genome: str,
        variant_id: str,
        dataset: str = 'gnomad_r4'
    ) -> dict:
        """
        [gnomAD API] Retrieve mitochondrial variant info (v4 only)
        Args:
            reference_genome (str): Reference genome (GRCh37 or GRCh38)
            variant_id (str): Mitochondrial variant ID (e.g. M-8602-T-C). Build must be GRCh38.
        Returns:
            dict: mito variant info
        Note:
            Not supported in v2/v3.
        """
    
        if dataset != 'gnomad_r4':
            raise ValueError("Only v4 is supported for mitochondrial variant info.")
        if reference_genome != 'GRCh38':
            raise ValueError("Only GRCh38 is supported for mitochondrial variant info.")
    
        variables = {
            'dataset': dataset,
            'reference_genome': reference_genome,
            'variant_id': variant_id,
        }
        return run_query_with_metadata('mitochondrial_variant', variables)
Behavior3/5

Does the description disclose side effects, auth requirements, rate limits, or destructive behavior?

No annotations are provided, so the description carries the full burden. It discloses key behavioral traits: API source (gnomAD), version constraints (v4 only, not v2/v3), and variant ID format requirements. However, it lacks details on permissions, rate limits, error handling, or response structure beyond 'dict: mito variant info'.

Agents need to know what a tool does to the world before calling it. Descriptions should go beyond structured annotations to explain consequences.

Conciseness5/5

Is the description appropriately sized, front-loaded, and free of redundancy?

The description is well-structured and front-loaded with the core purpose, followed by Args, Returns, and Note sections. Every sentence adds value: the first states purpose and constraints, Args clarify parameters, Returns indicates output type, and Note provides critical exclusion. Zero waste.

Shorter descriptions cost fewer tokens and are easier for agents to parse. Every sentence should earn its place.

Completeness4/5

Given the tool's complexity, does the description cover enough for an agent to succeed on first attempt?

Given 3 parameters with 0% schema coverage and an output schema present, the description is fairly complete. It covers purpose, usage constraints, and parameter semantics adequately. However, as a data retrieval tool with no annotations, it could benefit from more behavioral context (e.g., authentication, rate limits) to reach full completeness.

Complex tools with many parameters or behaviors need more documentation. Simple tools need less. This dimension scales expectations accordingly.

Parameters4/5

Does the description clarify parameter syntax, constraints, interactions, or defaults beyond what the schema provides?

Schema description coverage is 0%, so the description must compensate. It adds meaning for two parameters: 'reference_genome' (specifies GRCh37 or GRCh38) and 'variant_id' (explains format 'M-8602-T-C' and build requirement GRCh38). The third parameter 'dataset' is undocumented in both schema and description, but the description's 'v4 only' note partially covers it. This is strong compensation for low schema coverage.

Input schemas describe structure but not intent. Descriptions should explain non-obvious parameter relationships and valid value ranges.

Purpose4/5

Does the description clearly state what the tool does and how it differs from similar tools?

The description clearly states the tool's purpose: 'Retrieve mitochondrial variant info' with the specific scope '[gnomAD API]' and 'v4 only'. It distinguishes from siblings by focusing on mitochondrial variants, unlike other tools for ClinVar, copy number, or general variants. However, it doesn't explicitly contrast with 'get_variant_info' which might handle non-mitochondrial variants.

Agents choose between tools based on descriptions. A clear purpose with a specific verb and resource helps agents select the right tool.

Usage Guidelines4/5

Does the description explain when to use this tool, when not to, or what alternatives exist?

The description provides clear context on when to use it: for mitochondrial variants in gnomAD v4, with explicit exclusions ('Not supported in v2/v3'). It implies usage by specifying the variant ID format and reference genome build. However, it doesn't name alternatives among siblings or detail when to choose this over other variant tools.

Agents often have multiple tools that could apply. Explicit usage guidance like "use X instead of Y when Z" prevents misuse.

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